Reactome | Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain

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Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity	[CatalystActivity:9631891] glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity of EXT1:EXT2 mutants [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:17963] Golgi lumen
created	[InstanceEdit:3656262] Jassal, B, 2013-05-31
dbId	3656254
disease	[Disease:3656226] hereditary multiple exostoses
displayName	Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus	[EntityFunctionalStatus:3731101] loss_of_function of EXT1:EXT2 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-3656237] Defective EXT2 causes exostoses 2 - Homo sapiens
input	[DefinedSet:R-HSA-2076416] Heparan(1)-PGs [Golgi lumen] [SimpleEntity:R-ALL-914003] UDP-GlcNAc [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3731093] The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes [LiteratureReference:3731063] Positional cloning of a gene involved in hereditary multiple exostoses [LiteratureReference:3731103] Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses [LiteratureReference:3731058] New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain
normalReaction	[Reaction:R-HSA-2022851] EXT1:EXT2 transfer GlcNAc to the heparan chain
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-3656254
summation	[Summation:3731066] Exostosin 1 and 2 (EXT1 and 2) are dual-specific glycosyltra...

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(hasEvent)

[Pathway:R-HSA-3656237] Defective EXT2 causes exostoses 2

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